Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation-Reference-Cited by-同舟云学术

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Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation

Published:2018-05 Issue:4 Volume:4 Page:318-321
ISSN:2352-5126
Container-title:JAAD Case Reports
language:en
Short-container-title:JAAD Case Reports

Author:

Nagaputra Jerry C.,Koh Mark J.A.,Brett Maggie,Lim Eileen C.P.,Lim Hwee-Woon,Tan Ene-Choo

Funder

National Medical Research Council

Publisher

Elsevier BV

Subject

Dermatology

Reference10 articles.

1. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism;Giebel;Proc Natl Acad Sci U S A,1991

2. Deletion of the SLUG (SNAI2) gene results in human piebaldism;Sanchez-Martin;Am J Med Genet A,2003

3. SNAI2 mutation causes human piebaldism;Yang;Am J Med Genet A,2014

4. wANNOVAR: annotating genetic variants for personal genomes via the web;Chang;J Med Genet,2012

5. Piebaldism and neurofibromatosis type 1: family report;Duarte;Dermatol Online J,2010

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. KIT gene mutation causing piebaldism associated with multiple Café Au-Lait like macules and freckling: Delineating a cause of this coexistence;Indian Dermatology Online Journal;2023

2. Piebaldism: An Iranian case report carrying minor allele at rs999020 and rs1008658 SNPs of KIT gene;Gene Reports;2019-12

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